A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206256



Internal ID20773296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222277001..222336300hg38UCSC Ensembl
chr2:223141720..223201019hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3859300
hg1959300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335924
Supporting Variants
Samples
Known GenesCCDC140, PAX3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206256
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00102


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